{
    "disease_id": "DOID:0080471",
    "recommended_name": {
        "id": "DOID:0080471",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080471",
        "name": "developmental and epileptic encephalopathy 92",
        "description": "A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34."
    },
    "synonyms": [
        {
            "id": "MONDO:0020631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020631",
            "name": "developmental and epileptic encephalopathy 92",
            "description": ""
        },
        {
            "id": "MONDO:0020631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020631",
            "name": "DEE92",
            "description": ""
        },
        {
            "id": "MONDO:0020631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020631",
            "name": "IECEE2",
            "description": ""
        },
        {
            "id": "MONDO:0020631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020631",
            "name": "developmental and epileptic encephalopathy 92",
            "description": ""
        },
        {
            "id": "MONDO:0020631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020631",
            "name": "epileptic encephalopathy, infantile or early childhood, 2",
            "description": ""
        },
        {
            "id": "MIM:617829",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617829",
            "name": "Epileptic encephalopathy, infantile or early childhood, 2",
            "description": "Epileptic encephalopathy, infantile or early childhood, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080471"
    ],
    "unlinked_id_list": []
}